KCNK15-AS1
Basic information
Region (hg38): 20:44656445-44746362
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (6 variants)
- not provided (2 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the KCNK15-AS1 gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
---|---|---|---|---|---|---|
synonymous | 0 | |||||
missense | 0 | |||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 8 | |||||
Total | 0 | 0 | 5 | 1 | 2 |
Variants in KCNK15-AS1
This is a list of pathogenic ClinVar variants found in the KCNK15-AS1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
20-44715422-C-A | not specified | Uncertain significance (May 09, 2024) | ||
20-44719916-C-T | not specified | Uncertain significance (Jan 08, 2024) | ||
20-44719931-G-C | not specified | Uncertain significance (Jul 07, 2022) | ||
20-44719939-C-G | not specified | Uncertain significance (Oct 26, 2022) | ||
20-44719949-G-A | not specified | Uncertain significance (Sep 16, 2021) | ||
20-44719955-C-T | not specified | Uncertain significance (Dec 16, 2023) | ||
20-44720072-A-T | not specified | Uncertain significance (Jan 10, 2023) | ||
20-44720088-C-T | not specified | Likely benign (Jan 30, 2024) | ||
20-44720096-G-A | not specified | Uncertain significance (Mar 01, 2023) | ||
20-44720109-C-T | Benign (Feb 25, 2018) | |||
20-44724789-G-T | not specified | Uncertain significance (Apr 04, 2024) | ||
20-44724836-G-C | not specified | Uncertain significance (Sep 26, 2023) | ||
20-44724864-G-T | not specified | Uncertain significance (Sep 30, 2022) | ||
20-44724939-A-T | not specified | Uncertain significance (Nov 18, 2022) | ||
20-44724965-C-T | Benign (Feb 25, 2018) | |||
20-44724974-C-A | not specified | Uncertain significance (Jan 26, 2023) | ||
20-44727131-C-A | not specified | Uncertain significance (Dec 30, 2023) | ||
20-44727150-C-T | not specified | Uncertain significance (Mar 14, 2023) | ||
20-44727197-C-T | not specified | Uncertain significance (Apr 07, 2022) | ||
20-44727201-T-C | not specified | Uncertain significance (Nov 29, 2021) | ||
20-44727252-T-C | not specified | Uncertain significance (May 13, 2024) | ||
20-44727269-C-T | not specified | Uncertain significance (Jan 31, 2023) | ||
20-44727281-C-T | not specified | Uncertain significance (Apr 07, 2022) | ||
20-44727282-G-A | not specified | Uncertain significance (Mar 31, 2024) | ||
20-44745926-G-C | not specified | Uncertain significance (May 23, 2024) |
GnomAD
Source:
dbNSFP
Source: